Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo
{"title":"巴西遗传咨询质量评估工具的适应和验证:来自临床遗传学家的观点。","authors":"Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo","doi":"10.1007/s12687-025-00767-6","DOIUrl":null,"url":null,"abstract":"<p><p>In 2018, Portuguese researchers proposed the \"Tool for Quality Assessment of Genetic Counseling,\" a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions. The adapted tool was subsequently administered to 81 clinical geneticists, including physicians and nurses, and the data were analyzed using Principal Component Analysis. Items with factor loadings above 0.4 were retained for interpretive purposes. Results were normalized and categorized. The adapted items achieved acceptable CVIs, ranging from 0.831 to 1.0, demonstrating strong validity. Scale results revealed that the dimensions \"genetic counseling outcomes\" (100%), \"education\" (86.41%), and \"individual attributes\" (80%) were rated as very good, \"counselor-client relationship\" (76.33%) as good, and \"service functioning\" (59.95%) as sufficient. These findings indicated that although participants perceived the genetic counseling they provided as achieving desired outcomes, deficiencies in service functioning negatively impacted perceptions of overall quality, highlighting the need for systemic improvements to enhance service delivery. This cross-cultural adaptation validated a reliable new instrument for Brazilian professionals, providing a robust foundation for future research and applications in diverse clinical settings.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5000,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.\",\"authors\":\"Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo\",\"doi\":\"10.1007/s12687-025-00767-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In 2018, Portuguese researchers proposed the \\\"Tool for Quality Assessment of Genetic Counseling,\\\" a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions. The adapted tool was subsequently administered to 81 clinical geneticists, including physicians and nurses, and the data were analyzed using Principal Component Analysis. Items with factor loadings above 0.4 were retained for interpretive purposes. Results were normalized and categorized. The adapted items achieved acceptable CVIs, ranging from 0.831 to 1.0, demonstrating strong validity. 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Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.
In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions. The adapted tool was subsequently administered to 81 clinical geneticists, including physicians and nurses, and the data were analyzed using Principal Component Analysis. Items with factor loadings above 0.4 were retained for interpretive purposes. Results were normalized and categorized. The adapted items achieved acceptable CVIs, ranging from 0.831 to 1.0, demonstrating strong validity. Scale results revealed that the dimensions "genetic counseling outcomes" (100%), "education" (86.41%), and "individual attributes" (80%) were rated as very good, "counselor-client relationship" (76.33%) as good, and "service functioning" (59.95%) as sufficient. These findings indicated that although participants perceived the genetic counseling they provided as achieving desired outcomes, deficiencies in service functioning negatively impacted perceptions of overall quality, highlighting the need for systemic improvements to enhance service delivery. This cross-cultural adaptation validated a reliable new instrument for Brazilian professionals, providing a robust foundation for future research and applications in diverse clinical settings.
期刊介绍:
The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals.
Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues.
The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries.
The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.